T57A (p.Thr57Ala) variant of RAF1 (P04049)
T57A (p.Thr57Ala) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The record also includes experimental measurements and structural context.
T57A (p.Thr57Ala) variant details
- p.Thr57Ala
- TOPMed rs141658044
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.771